Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epidermolysis bullosa with pyloric atresia ITGB4 disease C1856934 GeneticVariation 1 orphanet , disgenet
Epidermolysis bullosa with pyloric atresia ITGB4 disease C1856934 GermlineCausalMutation 1 orphanet , disgenet
Epidermolysis bullosa with pyloric atresia ITGB4 disease C1856934 Biomarker 1 orphanet , disgenet
Epidermolysis bullosa with pyloric atresia ITGB4 disease C1856934 CausalMutation 1 orphanet , disgenet
Epidermolysis bullosa with pyloric atresia ITGA6 disease C1856934 Biomarker 0.68 orphanet , disgenet
Epidermolysis bullosa with pyloric atresia ITGA6 disease C1856934 GeneticVariation 0.68 orphanet , disgenet
Epidermolysis bullosa with pyloric atresia ITGA6 disease C1856934 GermlineCausalMutation 0.68 orphanet , disgenet
Epidermolysis bullosa with pyloric atresia PLEC disease C1856934 GeneticVariation 0.34 disgenet
Epidermolysis bullosa with pyloric atresia PLEC disease C1856934 Biomarker 0.34 disgenet
Epidermolysis bullosa with pyloric atresia GALK1 disease C1856934 CausalMutation 0.1 disgenet
Epidermolysis bullosa with pyloric atresia GALK1 disease C1856934 GeneticVariation 0.1 disgenet
Epidermolysis bullosa with pyloric atresia FN1 disease C1856934 GeneticVariation 0.01 disgenet
Epidermolysis bullosa with pyloric atresia NAT9 disease C1856934 Biomarker 0.01 disgenet
Epidermolysis bullosa with pyloric atresia BHLHE23 disease C1856934 GeneticVariation 0.01 disgenet
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